Search results for "epispadias"
showing 10 items of 23 documents
The sigma rectum pouch (Mainz pouch II)
1996
A low-pressure reservoir for urine is created by antimesenteric splitting and side-to-side anastomosis of the rectosigmoid, the expectation being to obtain better continence rates and better protection of the upper tract than are achievable by ureterosigmoidostomy. Between 1990 and August 1993 the procedure was performed in 73 patients (59 adults and 14 children) whose mean age was 43.5 years. The indications were malignancy (n = 55), bladder exstrophy/epispadias (n = 14), trauma (n = 3), and sinus urogenitalis (n = 1). Of the 73 patients, 69 were followed for a mean period of 127 (range, 1-34) months. In all, 5 early complications were encountered (6.8%). In addition, 8 late complications …
Evaluation of sexual function in females with exstrophy-epispadias-complex: a survey of the multicenter German CURE-Net
2016
Standardized knowledge about genital function in adult female individuals with exstrophy-epispadias complex (EEC) is scarce. The aim of this study was to investigate sexual function using the standardized Female Sexual Function Index (FSFI), and to assess the influence of bladder and vaginal reconstruction and the presence of incontinence on FSFI results.Sixty-one females (aged ≥18 years) recruited by the German multicenter network for congenital uro-rectal malformations (CURE-Net) were asked to complete the FSFI and a self-designed semi-structured questionnaire assessing comprehensive medical data, gynecological, and psychosocial items. Twenty-one eligible females (34%) returned both quest…
Classic bladder exstrophy: Frequent 22q11.21 duplications and definition of a 414 kb phenocritical region
2014
Background: Classic bladder exstrophy (CBE) is the most common form of the bladder exstrophy and epispadias complex. Previously, we and others have identified four patients with a duplication of 22q11.21 among a total of 96 unrelated CBE patients. Methods: Here, we investigated whether this chromosomal aberration was commonly associated with CBE/bladder exstrophy and epispadias complex in an extended case-control sample. Multiplex ligation-dependent probe amplification and microarray-based analysis were used to identify 22q11.21 duplications in 244 unrelated bladder exstrophy and epispadias complex patients (including 217 CBE patients) and 665 healthy controls. Results: New duplications of …
Phenotype severity in the bladder exstrophy-epispadias complex: analysis of genetic and nongenetic contributing factors in 441 families from North Am…
2011
Objective To identify genetic and nongenetic risk factors that contribute to the severity of the bladder exstrophy-epispadias complex (BEEC). Study design Patients with BEEC from North America (n = 167) and Europe (n = 274) were included. The following data were collected: associated anomalies, parental age at conception, mode of conception, periconceptional folic acid supplementation, maternal risk factors during pregnancy, and environmental risk factors. The patients were divided into 3 subgroups according to phenotype severity: (i) mild, epispadias (n = 43); (ii) intermediate, classic bladder exstrophy (n = 366); and (iii) severe, cloacal exstrophy (n = 31). These subgroups then were com…
Assisted reproductive techniques and risk of exstrophy-epispadias complex: a German case-control study.
2012
We assessed the risk of exstrophy-epispadias complex in children conceived by in vitro fertilization or intracytoplasmic sperm injection.Data from the German Network for Congenital Uro-REctal malformations were compared to nationwide data from the German In Vitro Fertilization Register and the German Federal Statistical Office. Odds ratios (95% CI) were determined to quantify associations using logistic regression.A total of 123 patients with exstrophy-epispadias complex born in Germany between 1997 and 2011 were recruited through participating departments of pediatric urology and pediatric surgery throughout the country as well as the German self-help organizations Blasenekstrophie/Epispad…
Murine expression and mutation analyses of the prostate androgen-regulated mucin-like protein 1 (Parm1) gene, a candidate for human epispadias.
2012
Abstract Background Epispadias is the mildest phenotype of the human bladder exstrophy–epispadias complex (BEEC), and presents with varying degrees of severity. This urogenital birth defect results from a disturbance in the septation process, during which separate urogenital and anorectal components are formed through division of the cloaca. This process is reported to be influenced by androgen signaling. The human PARM1 gene encodes the prostate androgen-regulated mucin-like protein 1, which is expressed in heart, kidney, and placenta. Methods We performed whole mount in situ hybridization analysis of Parm1 expression in mouse embryos between gestational days (GD) 9.5 and 12.5, which are e…
Sigma-rectum pouch (Mainz pouch II).
1993
A substantial modification of the classic technique of ureterosigmoidostomy is introduced in this article. To date, this procedure has been used in 47 patients. This article reviews the surgical technique of the antemesenterial splitting of the intestine at the recto-sigmoid junction which creates a pouch by subsequent side-to-side anastomosis.
A Prevalence Estimation of Exstrophy and Epispadias in Germany From Public Health Insurance Data
2021
Introduction: The prevalence of rare diseases is very important for health care research. According to the European Surveillance of Congenital Anomalies (EUROCAT) registers, the live prevalence for exstrophy and/or epispadias (grades 1–3) is reported with 1:23,255 (95% CI: 1:26,316; 1:20,000). A Europe-wide prevalence evaluation based on reports from excellence centers estimates a prevalence for exstrophies of 1:32,200 and for isolated epispadias of 1:96,800 in 2010. However, the frequency of exstrophy [International Statistical Classification of Diseases and Related Health Problems revision 10 (ICD-10): Q64.1] and epispadias (ICD-10: Q64.0) treated in different age groups in Germany remain…
Operative Reconstruction of the External and Internal Genitalia in Female Patients with Bladder Exstrophy or Incontinent Epispadias
1995
AbstractPurpose: Urologists and gynecologists rarely encounter questions on cohabitation and pregnancy in female patients with bladder exstrophy or incontinent epispadias.Materials and Methods: Until 1994, 41 female patients underwent surgery at our institution (vaginal cutback or vaginoplasty in 23, correction of the external genitalia in 25 and uterus fixation to correct or prevent prolapse in 13).Results: Followup was available in 37 patients (mean 16.8 years, with followup of 18 years or longer in 19). Of the patients 94 percent are satisfied with the cosmetic results. All adults engage in sexual intercourse, 4 delivered 6 children by cesarean section and 5 presently desire children.Con…
Urinary diversion in bladder exstrophy and incontinent epispadias: 25 years of experience.
1995
To determine the optimal surgical approach in achieving complete urinary continence with preservation of the upper urinary tract in the exstrophy-epispadias complex we reviewed the records of patients treated at our institution.From 1968 to July 1994, 115 patients with bladder exstrophy/incontinent epispadias were treated of whom followup was available for 104 and 2 died of causes unrelated to urinary diversion. Mean followup is 16.7 years. In 43 of the 102 patients surgery was primarily performed at our institution (urinary diversion in 39, a modified Young-Dees procedure in 1 and sling plasty in 3). In another 59 patients urinary diversion was done secondarily after therapy elsewhere (bla…